Canonical Allele Identifier: CA1580441093

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546638_126546642delinsCAGAA , CM000667.2:g.126546638_126546642delinsCAGAA	GRCh38
NC_000005.9:g.125882330_125882334delinsCAGAA , CM000667.1:g.125882330_125882334delinsCAGAA	GRCh37
NC_000005.8:g.125910229_125910233delinsCAGAA	NCBI36
NG_008600.2:g.53749_53753delinsTTCTG
NG_008600.3:g.53749_53753delinsTTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1490-243_1490-239delinsTTCTG MANE Select	ENSP00000387123.3:n.1490-243_1490-239delinsTTCTG
ENST00000458249.6:c.*1399-243_*1399-239delinsTTCTG	ENSP00000403929.1:n.*1399-243_*1399-239delinsTTCTG
ENST00000485852.7:n.237-243_237-239delinsTTCTG
ENST00000497231.7:n.1917-243_1917-239delinsTTCTG
ENST00000635851.1:c.1488-243_1488-239delinsTTCTG
ENST00000636225.1:c.*1434-243_*1434-239delinsTTCTG	ENSP00000490797.1:n.*1434-243_*1434-239delinsTTCTG
ENST00000636286.1:n.1255-243_1255-239delinsTTCTG
ENST00000636482.1:n.1024-243_1024-239delinsTTCTG
ENST00000636743.1:c.1370-243_1370-239delinsTTCTG	ENSP00000489725.1:n.1370-243_1370-239delinsTTCTG
ENST00000636808.1:c.*1299-243_*1299-239delinsTTCTG	ENSP00000490833.1:n.*1299-243_*1299-239delinsTTCTG
ENST00000636872.1:c.1650-243_1650-239delinsTTCTG	ENSP00000490919.1:n.1650-243_1650-239delinsTTCTG
ENST00000636879.1:c.1535-243_1535-239delinsTTCTG	ENSP00000490811.1:n.1535-243_1535-239delinsTTCTG
ENST00000636886.1:c.1289-243_1289-239delinsTTCTG	ENSP00000490371.1:n.1289-243_1289-239delinsTTCTG
ENST00000637206.1:c.1310-243_1310-239delinsTTCTG	ENSP00000489895.1:n.1310-243_1310-239delinsTTCTG
ENST00000637272.1:c.1481-243_1481-239delinsTTCTG	ENSP00000489686.1:n.1481-243_1481-239delinsTTCTG
ENST00000637292.1:c.946-243_946-239delinsTTCTG
ENST00000637782.1:c.1490-243_1490-239delinsTTCTG	ENSP00000490024.1:n.1490-243_1490-239delinsTTCTG
ENST00000638008.1:c.*1334-243_*1334-239delinsTTCTG	ENSP00000490400.1:n.*1334-243_*1334-239delinsTTCTG
ENST00000638010.1:n.1436-243_1436-239delinsTTCTG
ENST00000409134.7:c.1490-243_1490-239delinsTTCTG	ENSP00000387123.3:n.1490-243_1490-239delinsTTCTG
ENST00000447989.6:c.1379-243_1379-239delinsTTCTG	ENSP00000414132.2:n.1379-243_1379-239delinsTTCTG
ENST00000485852.6:n.237-243_237-239delinsTTCTG
ENST00000497231.6:n.1700-243_1700-239delinsTTCTG
ENST00000553117.5:c.1298-243_1298-239delinsTTCTG	ENSP00000448593.1:n.1298-243_1298-239delinsTTCTG
NM_001182.4:c.1490-243_1490-239delinsTTCTG	NP_001173.2:n.1490-243_1490-239delinsTTCTG
NM_001201377.1:c.1406-243_1406-239delinsTTCTG	NP_001188306.1:n.1406-243_1406-239delinsTTCTG
NM_001202404.1:c.1379-243_1379-239delinsTTCTG	NP_001189333.1:n.1379-243_1379-239delinsTTCTG
XM_011543417.1:c.1085-243_1085-239delinsTTCTG	XP_011541719.1:n.1085-243_1085-239delinsTTCTG
XM_011543417.2:c.1085-243_1085-239delinsTTCTG	XP_011541719.1:n.1085-243_1085-239delinsTTCTG
NM_001182.5:c.1490-243_1490-239delinsTTCTG MANE Select	NP_001173.2:n.1490-243_1490-239delinsTTCTG
NM_001201377.2:c.1406-243_1406-239delinsTTCTG	NP_001188306.1:n.1406-243_1406-239delinsTTCTG
NM_001202404.2:c.1298-243_1298-239delinsTTCTG	NP_001189333.2:n.1298-243_1298-239delinsTTCTG